Phenotype #0000106741

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00133992
Associated disease	MD
Phenotype details	milder form LGMD-2c; white cryastallin trace of thymidine residuals; 5y-inable to walk (HP:0002540)
Diagnosis/Initial	muscular dystrophy, Duchenne-like
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	19m
Phenotype/Onset	mild clinical DMD
Protein	WB no SGCG, reduced SGCA, normal SGCB/SGCD
Owner name	Elena Popescu
Database submission license	No license selected
Created by	Elena Popescu
Date created	2010-03-19 18:31:36 +01:00 (CET)
Date last edited	2012-03-09 19:32:06 +01:00 (CET)

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